EGR2 - early growth response 2 Gene

Also Known as CHN1; AT591; CMT1D; CMT4E; KROX20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1959

About EGR2

Cytogenetic location: 10q21.3 Genomic coordinates (GRCh38): 10:62,811,996-62,819,167 (from NCBI)

This gene has 7 transcripts (splice variants), 260 orthologues, 4 paralogues and is associated with 7 phenotypes. Biased expression in thyroid (RPKM 66.1), gall bladder (RPKM 19.2) and 11 other tissues.

Summary

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

EGR2 Products (6)

mRNA Protein Name
NM_000399.5 NP_000390.2 E3 SUMO-protein ligase EGR2 isoform a
NM_001136177.3 NP_001129649.1 E3 SUMO-protein ligase EGR2 isoform a
NM_001136178.2 NP_001129650.1 E3 SUMO-protein ligase EGR2 isoform a
NM_001136179.3 NP_001129651.1 E3 SUMO-protein ligase EGR2 isoform b
NM_001321037.2 NP_001307966.1 E3 SUMO-protein ligase EGR2 isoform b
NM_001410931.1 NP_001397860.1 E3 SUMO-protein ligase EGR2 isoform c
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12687019 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
14532282 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
17717711 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12687019 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14532282 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17717711 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
19651900 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12687019 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EGR2 Protein Structure

DUF3446

DUF3446: Domain of unknown function (DUF3446) (94 - 184)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (357 - 380)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (384 - 408)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
Protein Preferred Names Protein Names

E3 SUMO-protein ligase EGR2

  • E3 SUMO-protein transferase ERG2

EGR2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82181 EGR2 Antibody (YA1926) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
  • Charcot-Marie-Tooth Disease Type 1d

  • CMT1D

  • Hmsn Id

  • Hmsn1d

  • Charcot-Marie-Tooth Disease, Type 1d

  • Hereditary Motor And Sensory Neuropathy 1d

  • Charcot-Marie-Tooth Neuropathy Type 1d

  • Charcot-Marie-Tooth Neuropathy, Type 1d

  • Charcot-Marie-Tooth Disease 1d

  • Charcot-Marie-Tooth Disease Demyelinating Type 1d

  • Hereditary Motor And Sensory Neuropathy Id

  • Charcot-Marie-Tooth Disease, Type Id

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Sensory Peripheral Neuropathy
  • Sensory Neuropathy

  • Peripheral Sensory Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
  • Charcot-Marie-Tooth Disease Type 1a

  • CMT1A

  • Charcot-Marie-Tooth Disease, Type Ia

  • Hmsn1a

  • Hereditary Motor And Sensory Neuropathy Ia

  • Hmsn Ia

  • Charcot-Marie-Tooth Neuropathy, Type 1a

  • Charcot-Marie-Tooth Disease, Type 1a

  • Charcot-Marie-Tooth Neuropathy Type 1a

  • Hereditary Motor And Sensory Neuropathy 1a

  • Microduplication 17p12

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

  • Cmt 1a

  • Charcot Marie Tooth Disease Type 1a

  • Hmsn 1a

  • Charcot-Marie-Tooth Disease 1a

  • Charcot-Marie-Tooth Disease Demyelinating Type 1a

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
  • Charcot-Marie-Tooth Disease Type 1b

  • CMT1B

  • Hereditary Motor And Sensory Neuropathy Ib

  • Hmsn Ib

  • Hmsn1b

  • Peroneal Muscular Atrophy

  • Charcot-Marie-Tooth Disease, Type 1b

  • Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

  • Charcot-Marie-Tooth Neuropathy Type 1b

  • Charcot-Marie-Tooth Disease, Type Ib

  • Hereditary Motor And Sensory Neuropathy I

  • Hmsn I

  • Hmsn1

  • Charcot-Marie-Tooth Neuropathy, Type 1b

  • Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

  • Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

  • Charcot-Marie-Tooth Disease 1b

  • Charcot-Marie-Tooth Disease Demyelinating Type 1b

  • Hmsn Type I

  • Hereditary Motor And Sensory Neuropathy Type I

  • Charcot-Marie-Tooth Disease

Neuropathy, Hereditary, With Liability To Pressure Palsies
  • Tomaculous Neuropathy

  • Hereditary Neuropathy With Liability To Pressure Palsies

  • HNPP

  • Polyneuropathy, Familial Recurrent

  • Neuropathy, Recurrent, With Pressure Palsies

  • Current Pressure-Sensitive Neuropathy

  • Familial Recurrent Polyneuropathy

  • Heterozygous Microdeletion 17p11.2p12

  • Potato-Grubbing Palsy

  • Tulip-Bulb Digger'S Palsy

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Familial Pressure Sensitive Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hereditary Pressure Sensitive Neuropathy

  • Inherited Tendency To Pressure Palsies

  • Hereditary Liability To Pressure Palsies

  • Nerve Compression Syndrome

  • Entrapment Neuropathies

  • Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
  • Charcot-Marie-Tooth Disease Type 1c

  • CMT1C

  • Hmsn1c

  • Hmsn Ic

  • Charcot-Marie-Tooth Disease, Type 1c

  • Charcot-Marie-Tooth Neuropathy Type 1c

  • Cmt, Slow Nerve Conduction Type C

  • Charcot-Marie-Tooth Neuropathy, Type 1c

  • Neuropathy, Hereditary Motor And Sensory, Type Ic

  • Cmt Slow Nerve Conduction Type C

  • Neuropathy Hereditary Motor And Sensory Type 1c

  • Charcot-Marie-Tooth Disease 1c

  • Charcot-Marie-Tooth Disease Demyelinating Type 1c

  • Hereditary Motor And Sensory Neuropathy Ic

  • Charcot-Marie-Tooth Disease, Type Ic

Charcot-Marie-Tooth Disease, Type 4a
  • Charcot-Marie-Tooth Disease Type 4a

  • CMT4A

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Neuropathy, Type 4a

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

  • Charcot-Marie-Tooth Neuropathy Type 4a

  • Charcot-Marie-Tooth Disease 4a

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

  • Charcot-Marie-Tooth Disease Neuropathy Type 4a

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
  • Pcwh Syndrome

  • PCWH

  • Neurologic Waardenburg-Shah Syndrome

  • Waardenburg-Shah Syndrome, Neurologic Variant

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome

  • Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease

  • Ws4 Plus

  • Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease

  • Waardenburg-Shah Syndrome Neurologic Variant

Charcot-Marie-Tooth Disease, Axonal, Type 2j
  • CMT2J

  • Charcot-Marie-Tooth Disease, Type 2j

  • Charcot-Marie-Tooth Disease Type 2j

  • Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities

  • Charcot-Marie-Tooth Neuropathy Type 2j

  • Charcot-Marie-Tooth Neuropathy, Type 2j

  • Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j

  • Charcot-Marie-Tooth Disease 2j

  • Charcot-Marie-Tooth Disease Axonal Type 2j

  • Charcot-Marie-Tooth Disease Neuronal Type 2j

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
  • Charcot-Marie-Tooth Disease Type 4f

  • CMT4F

  • Charcot-Marie-Tooth Disease, Type 4f

  • Charcot-Marie-Tooth Disease 4f

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Dejerine-Sottas Disease

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
  • CMTX1

  • Cmtx

  • Charcot-Marie-Tooth Disease X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

  • X-Linked Charcot-Marie-Tooth Disease

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

  • Cmt1x

  • X-Linked Charcot-Marie-Tooth Disease Type 1

  • X-Linked Hereditary Motor And Sensory Neuropathy

  • Hereditary Motor And Sensory Neuropathy, X-Linked

  • Hmsn, X-Linked

  • Charcot-Marie-Tooth Neuropathy, X-Linked, 1

  • Cmt2, Formerly

  • Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

  • Charcot-Marie-Tooth Neuropathy X-Linked 1

  • Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

  • Hereditary Motor And Sensory Neuropathy X-Linked

  • Hmsn X-Linked

  • Charcot-Marie-Tooth, X-Linked

  • Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

  • Charcot-Marie-Tooth Disease, X-Linked, 1

Polyneuropathy
  • Polyneuropathies

Argyll Robertson Pupil
  • Atypical Argyll-Robertson Pupil

  • Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic

  • Argyll Robertson Pupil, Atypical

Abnormal Pupillary Function
Charcot-Marie-Tooth Disease, Type 4c
  • Charcot-Marie-Tooth Disease Type 4c

  • CMT4C

  • Charcot-Marie-Tooth Neuropathy Type 4c

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c

  • Charcot-Marie-Tooth Neuropathy, Type 4c

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c

  • Charcot-Marie-Tooth Disease 4c

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Demyelinating Polyneuropathy
  • Peripheral Demyelinating Neuropathy

  • Demyelinating Peripheral Neuropathy

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Type 4d
  • Charcot-Marie-Tooth Disease Type 4d

  • CMT4D

  • Hmsnl

  • Hmsn4d

  • Charcot-Marie-Tooth Neuropathy Type 4d

  • Hereditary Motor And Sensory Neuropathy Lom Type

  • Hmsn-Lom

  • Neuropathy, Hereditary Motor And Sensory, Lom Type

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

  • Charcot-Marie-Tooth Neuropathy, Type 4d

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

  • Hmsn Lom Type

  • Hmsn, Lom Type

  • Hereditary Motor And Sensory Neuropathy, Lom Type

  • Charcot-Marie-Tooth Disease 4d

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

  • Hereditary Motor And Sensory Neuropathy Ivd

  • Hmsn Ivd

Charcot-Marie-Tooth Disease, Type 4h
  • Charcot-Marie-Tooth Disease Type 4h

  • CMT4H

  • Charcot-Marie-Tooth Neuropathy Type 4h

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

  • Charcot-Marie-Tooth Neuropathy, Type 4h

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

  • Charcot-Marie-Tooth Disease 4h

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Rett Syndrome
  • Atypical Rett Syndrome

  • RTT

  • Rett Disorder

  • Rts

  • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

  • Rett Syndrome, Preserved Speech Variant

  • Rett Syndrome, Atypical

  • Rett'S Disorder

  • Rett Syndrome Variant

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

  • Cerebroatrophic Hyperammonemia

  • Rett Like Syndrome

  • Rett'S Syndrome

  • Atypical Rtt

  • Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

  • Rett Syndrome Preserved Speech Variant

  • Rett Syndrome Zappella Variant

  • Rett Syndrome, Zappella Variant

Plexiform Neurofibroma
  • Neurofibroma Plexiform

  • Neurofibroma, Plexiform

Scoliosis
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
  • CMTX2

  • Charcot-Marie-Tooth Disease X-Linked Recessive 2

  • X-Linked Charcot-Marie-Tooth Disease Type 2

  • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2

  • Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2

  • Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Charcot-Marie-Tooth Disease, Type 4b2
  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Congenital Central Hypoventilation Syndrome
  • Cchs

  • Haddad Syndrome

  • Ondine Curse

  • Ondine Syndrome

  • Congenital Central Hypoventilation

  • Congenital Central Alveolar Hypoventilation Syndrome

  • Congenital Failure Of Autonomic Control

  • Ondine'S Curse

  • Primary Alveolar Hypoventilation

  • Ondine-Hirschsprung Disease

  • Central Congenital Hypoventilation Syndrome

  • Congenital Ondine Curse

  • Idiopathic Congenital Central Alveolar Hypoventilation

  • Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

  • Ondine-Hirschsprung Syndrome

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris EGR2 VGNC VGNC:51893
Rattus norvegicus EGR2 RGD RGD:621608
Felis catus EGR2 VGNC VGNC:61760
Bos taurus EGR2 VGNC VGNC:52767
Mus musculus EGR2 MGD MGI:95296
Macaca mulatta EGR2 VGNC VGNC:72174
Others EGR2 NCBI